Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Jürgen, Klammt"'
Autor:
Werner F. Blum, Jürgen Klammt, Serge Amselem, Heike M. Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Jr, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfäffle
Publikováno v:
EBioMedicine, Vol 36, Iss , Pp 390-400 (2018)
Background: Pituitary development and GH secretion are orchestrated by multiple genes including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3. We aimed to assess their mutation frequency and clinical relevance in children with severe G
Externí odkaz:
https://doaj.org/article/eb38d45a2af84fb1a420e9f01ae4ca4c
Autor:
Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune def
Externí odkaz:
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
Autor:
Dennis Löffler, Susanne Behrendt, John W.M. Creemers, Jürgen Klammt, Gabriela Aust, Juraj Stanik, Wieland Kiess, Peter Kovacs, Antje Körner
Publikováno v:
Molecular Metabolism, Vol 6, Iss 3, Pp 295-305 (2017)
Objective: Variants in Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) may be causative for obesity as suggested by monogenic cases and association studies. Here we assessed the functional relevance in experimental studies and the clinical rele
Externí odkaz:
https://doaj.org/article/071b460c88ce41049a3b3e9cde0cd903
Autor:
Dorit Schleinitz, Anna Seidel, Ruth Stassart, Jürgen Klammt, Petra G. Hirrlinger, Ulrike Winkler, Susanne Köhler, John T. Heiker, Ria Schönauer, Joanna Bialek, Knut Krohn, Katrin Hoffmann, Peter Kovacs, Johannes Hirrlinger
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g., MCPH1, WDR62, and ASPM. R
Externí odkaz:
https://doaj.org/article/ca7ee63e04ea4bef90e3730765618b66
Publikováno v:
Cogent Medicine, Vol 4, Iss 1 (2017)
Type I plasminogen deficiency is a rare autosomal recessive systemic disorder. It usually starts in infancy and is clinically characterized by chronic mucosal pseudomembranous lesions which contain largely fibrin due to diminished extracellular plasm
Externí odkaz:
https://doaj.org/article/a430e192531a4d88969cb9d4f430fbb5
Autor:
Christoph Beger, Susanne Bechtold-Dalla Pozza, Holger Bogatsch, Susann Weihrauch-Blüher, Denise Rockstroh, Ruth Gausche, Angelika Mohn, Zoran Gucev, Jürgen Klammt, Eric Gopel, Marina Schlicke, Eva-Maria Harmel, Marie-Hélène Gannagé-Yared, Julia Volkmann, Heike Pfäffle, Roland Pfäffle
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:e1705-e1717
ContextIGF1 receptor mutations (IGF1RM) are rare; however, patients exhibit pronounced growth retardation without catch-up. Although several case reports exist, a comprehensive statistical analysis investigating growth profile and benefit of recombin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::804fd3a85cd77edf196e6f5bada29f08
https://doi.org/10.1210/clinem/dgz165
https://doi.org/10.1210/clinem/dgz165
Autor:
Eva Müller, Desiree Dunstheimer, Jürgen Klammt, Daniela Friebe, Wieland Kiess, Jürgen Kratzsch, Tassilo Kruis, Sandy Laue, Roland Pfäffle, Tillmann Wallborn, Peter H Heidemann
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e38220 (2012)
Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues,
Externí odkaz:
https://doaj.org/article/b1058d4c285b425c95fc2b8bc19b0cb2
Autor:
Gudrun A. Rappold, Daniela Choukair, Georg F. Hoffmann, Cristina Martínez, Birgit Weiß, Anne Griesbeck, Matthias Schlesner, Franziska Simm, Markus Bettendorf, Roland Pfäffle, Jürgen Klammt, Stefan Wiemann, Nagarajan Paramasivam
Publikováno v:
Genetics in Medicine. 20:728-736
Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its etiology, but defects in kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c0414550f471c462e94edc92601717
https://doi.org/10.1038/gim.2017.165
https://doi.org/10.1038/gim.2017.165
Autor:
Andrew Dauber, Denise Rockstroh, Marco A. Sanchez, Vivian Hwa, I. David Schwartz, Roland Pfäffle, Doris Vokurková, David Neumann, Evelien F. Gevers, Louise A. Metherell, Mehul T Dattani, Jürgen Klammt, Ron G. Rosenfeld, Julia Kowalczyk, Shayne Andrew, Roberto Colombo
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Nature Communications
Nature Communications
Growth hormone (GH) insensitivity syndrome (GHIS) is a rare clinical condition in which production of insulin-like growth factor 1 is blunted and, consequently, postnatal growth impaired. Autosomal-recessive mutations in signal transducer and activat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9212aa853ec129246b8b07b863f1b8ed
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
Autor:
Susanne Behrendt, John W.M. Creemers, Juraj Stanik, Peter Kovacs, Dennis Löffler, Jürgen Klammt, Antje Körner, Gabriela Aust, Wieland Kiess
Publikováno v:
Molecular Metabolism, Vol 6, Iss 3, Pp 295-305 (2017)
Objective: Variants in Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) may be causative for obesity as suggested by monogenic cases and association studies. Here we assessed the functional relevance in experimental studies and the clinical rele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed9abde9467b79fb9ad05b2fc513b7f
http://www.sciencedirect.com/science/article/pii/S2212877816303209
http://www.sciencedirect.com/science/article/pii/S2212877816303209